scholarly journals Cleidocranial dysplasia: description with emphasis on the radiographic aspects of three cases in a family

2018 ◽  
Vol 50 (6) ◽  
pp. 371-376
Author(s):  
Rodolfo Mendes Queiroz ◽  
José Eduardo Martins Coelho ◽  
Leandro Fuso Ruiz ◽  
Rodrigo Castro Cervato ◽  
Mariana Do Val Cervelatti ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Tooth Eruption ◽  
Anterior Region ◽  
Cleidocranial Dysplasia ◽  
Sagittal Suture ◽  
Supernumerary Teeth ◽  
Genetic Syndrome ◽  
Wormian Bones ◽  
Sporadic Cases

We describe three cases of cleidoclavicular dysplasia in a family, a rare genetic syndrome, presenting autosomal dominant behavior, but with 20-40% of sporadic cases, with an estimated incidence of 1-9/ 1.000.000. The study is based on a family consisting of the parent couple, two daughters and one child. In this group, the mother and the two daughters presented a short stature, with a frontal cranial frontotemporal region, prominent sagittal suture mainly in the anterior region, brachycephaly, mild exophthalmia, broad neck and reduction of the laterolateral diameter of the upper portion of the thorax. In the radiographs of the skull and chest, the presence of Wormian bones in the skull cap, supernumerary teeth, anomalies of tooth eruption and absent or rudimentary clavicles were observed in all three. In view of the findings, the diagnosis of cleidocranial dysplasia was established.

scholarly journals Cleidocranial Dysplasia: A Case Report

1970 ◽  
Vol 21 (2) ◽  
pp. 166-169
Author(s):  
M Azizul Haque ◽  
ARM Saifuddin Ekram ◽  
M Durrul Huda
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Autosomal Dominant Disorder ◽  
Skeletal Abnormalities ◽  
Wide Range

Cleidocranial dysplasia is an autosomal dominant disorder with a wide range of expression, characterized by clavicular aplasia or hypoplasia, retarded cranial ossification, supernumerary teeth, short stature and a variety of other skeletal abnormalities. We are reporting a case of Cleidocranial dysplasia with literature is review. doi: 10.3329/taj.v21i2.3799   TAJ 2008; 21(2): 166-169   

scholarly journals Clinical and radiological findings in a severe case of cleidocranial dysplasia

2018 ◽  
pp. bcr-2018-226671 ◽  
Author(s):  
Priti P Lotlikar ◽  
Adriana G Creanga ◽  
Steven R Singer
Keyword(s):  
Autosomal Dominant ◽  
Treatment Guidelines ◽  
Severe Case ◽  
Permanent Teeth ◽  
Deciduous Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Radiological Findings ◽  
Recommended Treatment ◽  
Dominant Condition

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.

scholarly journals Cleidocranial dysplasia. A molecular and clinical review.

2018 ◽  
Vol 8 (1) ◽  
pp. 35-38
Author(s):  
Andrea Avendaño ◽  
Francisco Cammarata-Scalisi ◽  
Mochamad Fahlevi Rizal ◽  
Sarworini Bagio Budiardjo ◽  
Margaretha Suharsini ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Molecular Mechanisms ◽  
Target Genes ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Phenotypic Characteristics ◽  
Autosomal Dominant Disorder ◽  
Dental Abnormalities ◽  
Related Transcription Factor

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases leaving a large number of cases with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.

scholarly journals Cleidocranial dysplasia- case report

2020 ◽  
Vol 9 (9) ◽  
pp. e916998052
Author(s):  
Eleonor Álvaro Garbin Júnior ◽  
Anna Carolina Jaccottet Oliveira ◽  
Niviane Dorigan Vidor ◽  
Mauro Carlos Agner Busato ◽  
Geraldo Luiz Griza ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Regulatory Gene ◽  
Clinical Manifestations ◽  
Osteoblastic Differentiation ◽  
Permanent Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
The Face ◽  
The Common

Cleidocranial dysplasia (CCD) is a rare syndrome, occurring at a rate of 1:10,000,000 in the form presented in this clinical case. This syndrome occurs due to an autosomal dominant inheritance characterized by changes in skeletal formation and development, as a result of a mutation associated with the RUNX2 gene, the main regulatory gene for osteoblastic differentiation, resulting in manifestations such as hypoplastic or aplastic clavicles, brachycephaly, hypoplasia of the middle third of the face, and delay or non-closure of fontanelles. Specifically, in the intraoral region, atypical dental manifestations occur, such as failure in the exfoliation of the primary dentition, delayed eruption of permanent teeth, and multiple supernumerary teeth. Thus, this study aims to present a case report of a patient with the pathognomonic characteristics of the syndrome in its rarest form, as well as the radiographic, imaging and clinical manifestations that allow its diagnosis and a discussion on the common manifestations in such patients, forms of treatment, and the conduct of treatment according to the specific needs of that case..

scholarly journals Cleidocranial Dysplasia - Report of A Case

2009 ◽  
Vol 3 (3) ◽  
pp. 62-65
Author(s):  
Sansar Sharma ◽  
Amita Sharma
Keyword(s):  
Autosomal Dominant ◽  
Skeletal Development ◽  
Permanent Dentition ◽  
Cleidocranial Dysplasia ◽  
Dental Anomalies ◽  
Supernumerary Teeth ◽  
Deciduous Dentition ◽  
Autosomal Dominant Disorder ◽  
Skeletal Structures

ABSTRACT Cleidocranial dysplasia is a rare autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development. A case of an eleven year old boy with this syndrome is reported having multiple supernumerary teeth, retained deciduous dentition, non-eruption of permanent dentition along with hypoplasia of orofacial and skeletal structures.

scholarly journals Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Gilyazetdinov Kamil ◽  
Ju Young Yoon ◽  
Sukdong Yoo ◽  
Chong Kun Cheon
Keyword(s):  
Short Stature ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
Large Scale ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Connective Tissue Diseases ◽  
Cleidocranial Dysplasia ◽  
Facial Features ◽  
Targeted Exome Sequencing

Abstract Background Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targeted exome sequencing (TES). Methods Thirty-four patients in South Korea with suspected syndromic disorders based on abnormal growth and dysmorphic facial features, developmental delay, or accompanying anomalies were enrolled in 2018–2020 and evaluated by TES. Results For 17 of 34 patients with suspected syndromic SS, a genetic diagnosis was obtained by TES. The mean SDS values for height, IGF-1, and IGFBP-3 for these 17 patients were − 3.27 ± 1.25, − 0.42 ± 1.15, and 0.36 ± 1.31, respectively. Most patients displayed distinct facial features (16/17) and developmental delay or intellectual disability (12/17). In 17 patients, 19 genetic variants were identified, including 13 novel heterozygous variants, associated with 15 different genetic diseases, including many inherited rare skeletal disorders and connective tissue diseases (e.g., cleidocranial dysplasia, Hajdu–Cheney syndrome, Sheldon–Hall, acromesomelic dysplasia Maroteaux type, and microcephalic osteodysplastic primordial dwarfism type II). After re-classification by clinical reassessment, including family member testing and segregation studies, 42.1% of variants were pathogenic, 42.1% were likely pathogenic variant, and 15.7% were variants of uncertain significance. Ultra-rare diseases accounted for 12 out of 15 genetic diseases (80%). Conclusions A high positive result from genetic testing suggests that TES may be an effective diagnostic approach for patients with syndromic SS, with implications for genetic counseling. These results expand the mutation spectrum for rare genetic diseases related to SS in Korea.

Progressive Development of Supernumerary Teeth in Cleidocranial Dysplasia

1989 ◽  
Vol 16 (2) ◽  
pp. 103-106 ◽  
Author(s):  
K. Frame ◽  
R. I. W. Evans
Keyword(s):  
Treatment Period ◽  
Permanent Teeth ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Progressive Development ◽  
The Future

A 9-year-old boy suffering from cleidocranial dysplasia presented with multiple unerupted permanent teeth and five unerupted supernumerary teeth. During a 4-year observation and treatment period he developed nine more supernumerary teeth at a time when normally new teeth would no longer be forming. By the age of 13 years and 5 months a total of fourteen supernumerary teeth had been produced and it is possible that more teeth may develop in the future.

scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

1984 ◽  
Vol 18 (1) ◽  
pp. 67-77 ◽  
Author(s):  
Judith K. Stern ◽  
Mark S. Lubinsky ◽  
Daniel S. Durrie ◽  
John R. Luckasen ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Premature Birth ◽  
Autosomal Dominant

Multiple Supernumerary Teeth Associated with Bony Malformations

2011 ◽  
Vol 36 (2) ◽  
pp. 207-210 ◽  
Author(s):  
Rekhalakshmi Kamatham ◽  
J Sharada ◽  
Abinash Mohapatra ◽  
Sivakumar Nuvvula
Keyword(s):  
Cleidocranial Dysplasia ◽  
Early Age ◽  
Supernumerary Teeth ◽  
Atypical Case

Full blown cases of cleidocranial dysplasia (CCD) have been reported earlier, but a case with a rarity of 60 teeth associated with bony malformations, is seldom observed. Because of the oral findings this condition has been diagnosed at an early age, thus helping to achieve a better oral harmony. This article reports an atypical case with 16 supernumerary teeth associated with bony malformations.

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